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TTR transthyretin [Homo sapiens (human)]

Gene Symbol TTR
Entrez Gene ID 7276
Full Name transthyretin
Synonyms CTS, CTS1, HEL111, HsT2651, PALB, TBPA
General protein information
Preferred Names
transthyretin
Names
transthyretin
ATTR
carpal tunnel syndrome 1
thyroxine-binding prealbumin
prealbumin, amyloidosis type I
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

18

18q12.1

Summary This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009]. lac of sum
Disorder MIM:

176300

Disorder Html: Amyloidosis, hereditary, transthyretin-related, 105210 (3);





The following TTR gene sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the TTR gene which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu27033 NM_000371 Homo sapiens transthyretin (TTR), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$69.3
$99

*Business Day
**You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.


CloneID OHu27033
Accession Version NM_000371.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 444bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product transthyretin precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB498675.1, BC020791.1 and CA948224.1. This sequence is a reference standard in the RefSeqGene project. On Jan 22, 2009 this sequence version replaced gi:167736363. Summary: This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BI549547.1, CD357987.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
ATGGCTTCTC ATCGTCTGCT CCTCCTCTGC CTTGCTGGAC TGGTATTTGT GTCTGAGGCT 
GGCCCTACGG GCACCGGTGA ATCCAAGTGT CCTCTGATGG TCAAAGTTCT AGATGCTGTC
CGAGGCAGTC CTGCCATCAA TGTGGCCGTG CATGTGTTCA GAAAGGCTGC TGATGACACC
TGGGAGCCAT TTGCCTCTGG GAAAACCAGT GAGTCTGGAG AGCTGCATGG GCTCACAACT
GAGGAGGAAT TTGTAGAAGG GATATACAAA GTGGAAATAG ACACCAAATC TTACTGGAAG
GCACTTGGCA TCTCCCCATT CCATGAGCAT GCAGAGGTGG TATTCACAGC CAACGACTCC
GGCCCCCGCC GCTACACCAT TGCCGCCCTG CTGAGCCCCT ACTCCTATTC CACCACGGCT
GTCGTCACCA ATCCCAAGGA ATGA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_000362.1
CDS137..580
Misc Feature(1)83..85(+)
Misc Feature(2)206..568(+)
Misc Feature(3)239..553(+)
Misc Feature(4)251..562(+)
Misc Feature(5)320..322(+)
Misc Feature(6)539..553(+)
Exon (1)1..205
Gene:TTR
Gene Synonym:
Exon (2)206..336
Gene:TTR
Gene Synonym:
Exon (3)337..472
Gene:TTR
Gene Synonym:
Exon (4)473..929
Gene:TTR
Gene Synonym:
Translation
Position Chain Variation Link
58 58 c, t dbSNP:538940182
76 76 a, g dbSNP:770403822
89 89 a, c dbSNP:767740238
91 91 c, g dbSNP:750577317
93 93 a, g dbSNP:756185531
94 94 a, g dbSNP:778779634
95 95 c, g dbSNP:748100355
96 96 c, t dbSNP:758141056
112 112 c, t dbSNP:372544196
114 114 a, g dbSNP:13380912
121 121 a, g dbSNP:11541788
122 122 c, t dbSNP:746692906
125 125 a, t dbSNP:770523146
130 130 c, t dbSNP:776245405
134 134 a, g dbSNP:745422404
136 136 c, g dbSNP:769343676
144 144 -, tca dbSNP:747545126
145 145 -, tca dbSNP:755527537
149 149 c, t dbSNP:144792001
150 150 a, g dbSNP:138657343
154 154 c, g dbSNP:764373608
159 159 a, t dbSNP:774818831
161 161 c, t dbSNP:762243340
169 169 c, t dbSNP:773903339
173 173 a, g dbSNP:767889884
188 188 g, t dbSNP:730881172
193 193 a, g dbSNP:756202543
204 204 c, t dbSNP:377052919
205 205 a, g dbSNP:752579437
211 211 c, t dbSNP:750051388
212 212 a, g dbSNP:1800458
213 213 g, t dbSNP:17406960
214 214 c, t dbSNP:779457244
217 217 a, g dbSNP:201164521
224 224 c, t dbSNP:121918083
226 226 c, t dbSNP:528500765
230 230 -, tga dbSNP:768348156
231 231 c, t dbSNP:121918094
234 234 c, t dbSNP:768273993
249 249 a, g dbSNP:121918098
250 250 c, t dbSNP:779619795
252 252 -, ag dbSNP:778483568
252 252 c, t dbSNP:11541795
254 254 a, g dbSNP:121918093
261 261 a, g dbSNP:748604974
263 263 a, g dbSNP:11541800
266 266 c, t dbSNP:11541790
269 269 a, g dbSNP:104894664
271 271 c, t dbSNP:772568976
272 272 a, g dbSNP:773584864
276 276 a, g dbSNP:145551875
283 283 a, c, t dbSNP:11081703
284 284 a, c, g dbSNP:28933979
285 285 c, g, t dbSNP:79977247
288 288 -, at dbSNP:772036998
293 293 a, c, t dbSNP:121918068
300 300 a, t dbSNP:776687660
302 302 c, g dbSNP:121918077
314 314 a, g dbSNP:11541794
315 315 c, t dbSNP:113625622
321 321 a, g dbSNP:11541796
323 323 c, t dbSNP:1803083
326 326 c, t dbSNP:138065384
327 327 c, t dbSNP:104894665
329 329 a, g dbSNP:121918078
330 330 a, c dbSNP:730881169
331 331 c, g dbSNP:571695233
335 335 a, c, g dbSNP:387906523
336 336 c, g dbSNP:121918090
341 341 a, g dbSNP:121918081
343 343 c, g dbSNP:761765608
344 344 a, c, g dbSNP:386134269
345 345 a, g, t dbSNP:121918080
346 346 a, g, t dbSNP:121918076
351 351 a, c dbSNP:577168116
354 354 a, g dbSNP:121918097
356 356 ga, tc dbSNP:730881168
360 360 c, t dbSNP:121918079
362 362 c, t dbSNP:1803084
363 363 a, g dbSNP:78230119
369 369 a, g, t dbSNP:121918069
371 371 a, g dbSNP:770389488
372 372 a, c dbSNP:730881163
374 374 a, g dbSNP:121918070
377 377 a, g dbSNP:121918086
382 382 c, g dbSNP:754635255
386 386 c, t dbSNP:121918091
387 387 c, t dbSNP:121918099
395 395 a, g dbSNP:11541799
398 398 a, t dbSNP:121918085
401 401 c, t dbSNP:121918100
402 402 a, g dbSNP:752304732
403 403 c, t dbSNP:757950308
404 404 a, c dbSNP:778412314
406 406 a, c dbSNP:267607160
408 408 c, t dbSNP:121918084
416 416 c, g dbSNP:730881164
419 419 a, t dbSNP:730881170
426 426 a, c dbSNP:121918071
432 432 a, g dbSNP:730881171
434 434 a, g dbSNP:1804117
437 437 a, g, t dbSNP:730881165
446 446 a, c dbSNP:781345808
447 447 g, t dbSNP:121918072
449 449 c, t dbSNP:11541784
451 451 a, c, t dbSNP:11541787
461 461 c, g dbSNP:121918082
464 464 a, c dbSNP:121918074
472 472 a, g dbSNP:775671906
474 474 c, t dbSNP:372141133
483 483 c, t dbSNP:1803082
484 484 a, g dbSNP:761300672
485 485 g, t dbSNP:267607161
486 486 c, g dbSNP:121918087
490 490 a, c, t dbSNP:11541797
491 491 a, g dbSNP:76410435
492 492 a, c dbSNP:761127889
494 494 c, t dbSNP:76591836
496 496 c, t dbSNP:150127220
497 497 a, g dbSNP:755337715
498 498 a, c, g dbSNP:779070222
501 501 a, c dbSNP:11541793
503 503 c, t dbSNP:371566010
504 504 a, g dbSNP:148538950
506 506 c, t dbSNP:745834030
507 507 a, g dbSNP:121918095
508 508 c, g dbSNP:780119793
511 511 a, c dbSNP:749079577
515 515 a, g dbSNP:121918089
516 516 c, t dbSNP:768497450
517 517 c, t dbSNP:751430411
520 520 c, t dbSNP:143906738
521 521 a, g dbSNP:267607159
522 522 c, t dbSNP:121918092
523 523 a, c dbSNP:772657903
527 527 a, c dbSNP:121918073
533 533 c, t dbSNP:730881166
534 534 c, t dbSNP:11541785
536 536 c, t dbSNP:121918088
537 537 a, g dbSNP:121918075
541 541 c, g dbSNP:760153126
542 542 c, t dbSNP:766909913
543 543 a, c dbSNP:730881167
545 545 a, t dbSNP:777190076
547 547 c, t dbSNP:759874627
549 549 a, c dbSNP:1804118
552 552 c, t dbSNP:28933981
553 553 a, g dbSNP:2276382
559 559 c, t dbSNP:557320637
560 560 -, gtc dbSNP:121918096
560 560 a, g dbSNP:76992529
562 562 c, t dbSNP:11541782
567 567 a, g dbSNP:144965179
570 570 a, c dbSNP:11541798
573 573 a, g dbSNP:536294863
575 575 g, t dbSNP:730881162
577 577 a, g, t dbSNP:370056601
583 583 -, gacttctcc dbSNP:143948820
588 588 -, ctc dbSNP:766223850
593 593 c, t dbSNP:572856125
597 597 a, t dbSNP:752226470
601 601 a, c, t dbSNP:12226
602 602 c, t dbSNP:11541786
610 610 c, t dbSNP:747775821
611 611 a, g dbSNP:553309501
620 620 g, t dbSNP:189110724
626 626 a, g dbSNP:746586615
627 627 a, c, t dbSNP:770412921
628 628 c, g dbSNP:760022426
658 658 c, t dbSNP:543652861
660 660 c, g dbSNP:1061978
676 676 a, t dbSNP:777473485
687 687 a, g dbSNP:754316229
696 696 c, t dbSNP:11541783
704 704 a, g dbSNP:757641971
715 715 c, t dbSNP:537481434
723 723 c, g dbSNP:545271394
727 727 a, c dbSNP:77192274
728 728 a, t dbSNP:74923234
762 762 c, t dbSNP:371935476
771 771 c, t dbSNP:556327750
814 814 c, g dbSNP:542619281
829 829 a, g dbSNP:146228604
834 834 a, g dbSNP:193070048
841 841 c, t dbSNP:62093482
851 851 c, g dbSNP:571338379
864 864 a, g dbSNP:532395478
884 884 c, t dbSNP:541989755
885 885 a, g dbSNP:184588853
925 925 a, g dbSNP:58172837

Target ORF information:

RefSeq Version NM_000371
Organism Homo sapiens (human)
Definition Homo sapiens transthyretin (TTR), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000371

ORF Insert Sequence:

1
61
121
181
241
301
361
421
ATGGCTTCTC ATCGTCTGCT CCTCCTCTGC CTTGCTGGAC TGGTATTTGT GTCTGAGGCT 
GGCCCTACGG GCACCGGTGA ATCCAAGTGT CCTCTGATGG TCAAAGTTCT AGATGCTGTC
CGAGGCAGTC CTGCCATCAA TGTGGCCGTG CATGTGTTCA GAAAGGCTGC TGATGACACC
TGGGAGCCAT TTGCCTCTGG GAAAACCAGT GAGTCTGGAG AGCTGCATGG GCTCACAACT
GAGGAGGAAT TTGTAGAAGG GATATACAAA GTGGAAATAG ACACCAAATC TTACTGGAAG
GCACTTGGCA TCTCCCCATT CCATGAGCAT GCAGAGGTGG TATTCACAGC CAACGACTCC
GGCCCCCGCC GCTACACCAT TGCCGCCCTG CTGAGCCCCT ACTCCTATTC CACCACGGCT
GTCGTCACCA ATCCCAAGGA ATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.